Q7R (p.Gln7Arg) variant of TMC1 (Q8TDI8)
Q7R (p.Gln7Arg) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- gnomAD rs1240634356
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.13
- Population evidence available
- Structural context available